A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6808n100



Internal ID22792895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2051447..2067934hg38UCSC Ensembl
chr8:1999565..2016053hg19UCSC Ensembl
chr8:1986972..2003460hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3816488
hg1916489
hg1816489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030470, nsv1023492, nsv1028541, nsv1020091
Samples
Known GenesMYOM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6808n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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